Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta
ObjectiveOsteogenesis imperfecta (OI) is a rare genetic disorder. Clinical severity is heterogeneous. The purpose of this study was to investigate the genetic characteristics of a fetus with OI by whole exome sequencing (WES) and identify the cause of the disease.MethodsIn this study, a fetus with o...
| Hlavní autoři: | , , , , , |
|---|---|
| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
Frontiers Media S.A.
2023-11-01
|
| Edice: | Frontiers in Endocrinology |
| Témata: | |
| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1267252/full |